Incidental Mutation 'IGL03090:Asb15'
ID |
418333 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Asb15
|
Ensembl Gene |
ENSMUSG00000029685 |
Gene Name |
ankyrin repeat and SOCS box-containing 15 |
Synonyms |
4930400E23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03090
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24567185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 502
(I502K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
AlphaFold |
Q8VHS6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031696
AA Change: I502K
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031696 Gene: ENSMUSG00000029685 AA Change: I502K
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117688
AA Change: I502K
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112965 Gene: ENSMUSG00000029685 AA Change: I502K
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
G |
8: 41,247,965 (GRCm39) |
Y25C |
probably benign |
Het |
Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
Efhb |
T |
C |
17: 53,769,958 (GRCm39) |
Q117R |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gatb |
C |
A |
3: 85,526,330 (GRCm39) |
|
probably benign |
Het |
Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
Slc26a6 |
A |
G |
9: 108,737,890 (GRCm39) |
E541G |
probably benign |
Het |
Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
Tmem8b |
T |
A |
4: 43,689,721 (GRCm39) |
S333T |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
Het |
|
Other mutations in Asb15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Asb15
|
APN |
6 |
24,558,642 (GRCm39) |
splice site |
probably benign |
|
IGL00557:Asb15
|
APN |
6 |
24,558,649 (GRCm39) |
missense |
probably benign |
|
IGL00694:Asb15
|
APN |
6 |
24,570,663 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01137:Asb15
|
APN |
6 |
24,556,521 (GRCm39) |
missense |
probably benign |
|
IGL01681:Asb15
|
APN |
6 |
24,567,137 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01691:Asb15
|
APN |
6 |
24,567,271 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01791:Asb15
|
APN |
6 |
24,567,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Asb15
|
APN |
6 |
24,565,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02480:Asb15
|
APN |
6 |
24,570,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02541:Asb15
|
APN |
6 |
24,566,265 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02707:Asb15
|
APN |
6 |
24,558,787 (GRCm39) |
splice site |
probably benign |
|
IGL03331:Asb15
|
APN |
6 |
24,556,523 (GRCm39) |
missense |
possibly damaging |
0.70 |
3-1:Asb15
|
UTSW |
6 |
24,566,220 (GRCm39) |
missense |
probably benign |
0.00 |
BB002:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
BB012:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R0196:Asb15
|
UTSW |
6 |
24,564,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Asb15
|
UTSW |
6 |
24,556,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Asb15
|
UTSW |
6 |
24,566,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R1114:Asb15
|
UTSW |
6 |
24,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Asb15
|
UTSW |
6 |
24,562,486 (GRCm39) |
splice site |
probably benign |
|
R1365:Asb15
|
UTSW |
6 |
24,567,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2323:Asb15
|
UTSW |
6 |
24,556,600 (GRCm39) |
missense |
probably benign |
0.01 |
R3147:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R3148:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4762:Asb15
|
UTSW |
6 |
24,567,236 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4771:Asb15
|
UTSW |
6 |
24,570,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R4915:Asb15
|
UTSW |
6 |
24,566,292 (GRCm39) |
missense |
probably damaging |
0.96 |
R5369:Asb15
|
UTSW |
6 |
24,562,563 (GRCm39) |
missense |
probably benign |
0.00 |
R5415:Asb15
|
UTSW |
6 |
24,570,690 (GRCm39) |
missense |
probably benign |
0.05 |
R5781:Asb15
|
UTSW |
6 |
24,564,377 (GRCm39) |
missense |
probably benign |
0.11 |
R6649:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6653:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6781:Asb15
|
UTSW |
6 |
24,558,674 (GRCm39) |
missense |
probably benign |
|
R6984:Asb15
|
UTSW |
6 |
24,566,336 (GRCm39) |
missense |
probably benign |
0.17 |
R7297:Asb15
|
UTSW |
6 |
24,566,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R7340:Asb15
|
UTSW |
6 |
24,558,513 (GRCm39) |
missense |
probably benign |
0.00 |
R7419:Asb15
|
UTSW |
6 |
24,556,555 (GRCm39) |
missense |
probably benign |
0.08 |
R7549:Asb15
|
UTSW |
6 |
24,559,029 (GRCm39) |
splice site |
probably null |
|
R7662:Asb15
|
UTSW |
6 |
24,566,089 (GRCm39) |
missense |
probably benign |
0.08 |
R7717:Asb15
|
UTSW |
6 |
24,559,251 (GRCm39) |
missense |
probably benign |
|
R7767:Asb15
|
UTSW |
6 |
24,559,281 (GRCm39) |
missense |
probably benign |
|
R7781:Asb15
|
UTSW |
6 |
24,562,644 (GRCm39) |
missense |
probably benign |
0.01 |
R7797:Asb15
|
UTSW |
6 |
24,562,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R7847:Asb15
|
UTSW |
6 |
24,564,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7925:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8055:Asb15
|
UTSW |
6 |
24,556,565 (GRCm39) |
missense |
probably benign |
0.05 |
R8304:Asb15
|
UTSW |
6 |
24,559,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8694:Asb15
|
UTSW |
6 |
24,570,666 (GRCm39) |
missense |
probably benign |
0.00 |
R9268:Asb15
|
UTSW |
6 |
24,566,298 (GRCm39) |
missense |
probably benign |
|
Z1176:Asb15
|
UTSW |
6 |
24,566,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |